RNA splicing factors as oncoproteins and tumour suppressors.
RNA splicing factors as oncoproteins and tumour suppressors.
复制标题
DOI：
10.1038/nrc.2016.51
复制
发表时间：
2016-07
期刊：
影响因子：
--
通讯作者：
中科院分区：
文献类型：
--
作者：
最近的癌症基因组特征揭示了反复出现的体细胞点突变和影响RNA剪接因子编码基因的拷贝数变化。对这些“剪接体突变”的初步研究表明，与野生型蛋白相比，携带这些突变的蛋白质表现出不同的剪接位点和/或外显子识别偏好，导致癌症特异性错误剪接。这种剪接机制的变化可能会在癌细胞中产生新的脆弱性，可以利用可以影响剪接过程的化合物进行治疗。进一步研究剪接体突变的生化、基因组和生物学效应，对于开发针对这些突变的癌症治疗方法至关重要。
The recent genomic characterization of cancers has revealed recurrent somatic point mutations and copy number changes affecting genes encoding RNA splicing factors. Initial studies of these ‘spliceosomal mutations’ suggest that the proteins bearing these mutations exhibit altered splice site and/or exon recognition preferences relative to their wild-type counterparts, resulting in cancer-specific mis-splicing. Such changes in the splicing machinery may create novel vulnerabilities in cancer cells that can be therapeutically exploited using compounds that can influence the splicing process. Further studies to dissect the biochemical, genomic, and biological effects of spliceosomal mutations are critical for the development of cancer therapies targeted to these mutations.